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Article

Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.

European journal of human genetics : EJHG - 1 Feb 2024

Lagorce David, Lebreton Emeline, Matalonga Leslie, Hongnat Oscar, Chahdil Maroua, Piscia Davide, Paramonov Ida, Ellwanger Kornelia, Köhler Sebastian, Robinson Peter, Graessner Holm, Beltran Sergi, Lucano Caterina, Hanauer Marc, Rath Ana

Abstract excerpt

Rare diseases (RD) have a prevalence of not more than 1/2000 persons in the European population, and are characterised by the difficulty experienced in obtaining a correct and timely diagnosis. According to Orphanet, 72.5% of RD have a genetic origin although 35% of them do not yet have an identified causative gene. A significant proportion of patients suspected to have a genetic RD receive an inconclusive...

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PMID: 37926714
DOI: 10.1038/s41431-023-01486-7
PMCID: PMC10853199

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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